Varaico: Literature-Extracted Genetic Variants

NPAS3

62 papers

RefSeq Summary

This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in n...

Pfam Domains

bHLH_HIF1Aaa 46–113UCSCHypoxia-inducible factor 1-alpha bHLH domain

PASaa 150–228UCSCPAS fold

PAS_3aa 343–430UCSCPAS fold

Gene Aliases

HGNC Name

neuronal PAS domain protein 3

HGNC Alias Symbols

MOP6; PASD6; bHLHe12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001164749.2

p.G764_G765del0

c.2290_2295del6

Surrounding Variants

2 papers

NM_001164749.2

p.S754S

c.2262C>G

1 paper

NM_001164749.2

p.G774_G776ins1

c.2322_2327dup6

1 paper

NM_001164749.2

p.A743Fs

c.2228delinsCGFs

1 paper

NM_001164749.2

p.P741Fs

c.2222delinsCGFs

2 papers

NM_001164749.2

p.T736T

c.2208C>T

1 paper

NM_001164749.2

p.G732_A733del0

c.2194_2199del6

1 paper

NM_001164749.2

p.A724V

c.2171C>T

1 paper

NM_001164749.2

p.D722E

c.2166C>G

1 paper

NM_001164749.2

p.G704G

c.2112C>T

1 paper

NM_001164749.2

p.G699G

c.2097T>C

1 paper

NM_001164749.2

p.G699R

c.2095G>C

2 papers

NM_001164749.2

p.G697S

c.2089G>A